P52L (p.Pro52Leu) variant of SCN5A (Q14524)
P52L (p.Pro52Leu) in SCN5A (Q14524) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT3. The record also includes structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Uncertain significance
- in LQT3
- Missense
- EBI: uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available